User profiles for C. E. Shaw

Christopher E Shaw

Institute of Psychiatry, King's College London
Verified email at kcl.ac.uk
Cited by 71033

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

…, R Gwilliam, P Deloukas, A Al-Chalabi, CE Shaw… - Nature …, 2009 - nature.com
We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD)
involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 …

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

…, A Al-Chalabi, CC Miller, G Nicholson, CE Shaw - Science, 2008 - science.org
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically
by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 …

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

…, J De Belleroche, JM Gallo, CC Miller, CE Shaw - Science, 2009 - science.org
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is familial in 10%
of cases. We have identified a missense mutation in the gene encoding fused in sarcoma (…

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

…, R Gwilliam, P Deloukas, A Al-Chalabi, CE Shaw… - Nature …, 2011 - nature.com
We sought to identify new susceptibility loci for Alzheimer's disease through a staged
association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease …

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

…, BN Smith, S Topp, AS Gkazi, J Miller, CE Shaw… - Nature, 2013 - nature.com
Algorithms designed to identify canonical yeast prions predict that around 250 human
proteins, including several RNA-binding proteins associated with neurodegenerative disease, …

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

…, R Patani, S Chandran, G Rot, B Zupan, CE Shaw… - Nature …, 2011 - nature.com
TDP-43 is a predominantly nuclear RNA-binding protein that forms inclusion bodies in
frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The mRNA …

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

…, J Veldink, V Silani, N Ticozzi, CE Shaw… - Science, 2015 - science.org
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective
treatment. We report the results of a moderate-scale sequencing study aimed at increasing the …

Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: an [11C](R)-PK11195 positron emission tomography study

…, A Cagnin, FE Turkheimer, CCJ Miller, CE Shaw… - Neurobiology of …, 2004 - Elsevier
Microglial activation is implicated in the pathogenesis of ALS and can be detected in animal
models of the disease that demonstrate increased survival when treated with anti-…

[PDF][PDF] Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations

…, B Bilican, E Chaum, S Chandran, CE Shaw… - Neuron, 2014 - cell.com
The RNA-binding protein TDP-43 regulates RNA metabolism at multiple levels, including
transcription, RNA splicing, and mRNA stability. TDP-43 is a major component of the …

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

…, M De Visser, A Goris, M Weber, CE Shaw… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …